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Results of Newborn
Blood-Spot screening
Carrier of a sickle cell gene –
sometimes called trait
Hb AS
Newborn Blood-Spot screening tests have shown
that your baby carries a gene for sickle cell. Your baby
does not have sickle cell disease and does not need
medical treatment.
However, it is important that you read this leaflet.
It contains information about what this result may
mean in the future for your baby and for your family.
What is my baby’s screening result?
When your baby was about a
week old, a midwife took some
blood from your baby’s heel to test
for rare conditions including sickle
cell disease.
The test shows that your baby has
not inherited sickle cell disease.
However, your baby has inherited
one gene for sickle cell. We call
this being a sickle cell carrier. Some
people call it having sickle cell trait.
Carriers do not have sickle cell
disease. But, they may pass on the
gene for sickle cell to their own
children – they can carry the gene
to the next generation. It will be
important for your child to know
about being a carrier when they
grow up and want to start a family
of their own.
This leaflet explains about sickle
cell, about being a carrier, and about
how this might affect your family.
1
“If you’re discovered to be a
carrier it doesn’t affect your
general health.”
Father who came forward for testing
What action should I take?
We recommend that you:
• keep a copy of your baby’s test result so that you can show
it to health professionals such as anaesthetists (please ask your
health visitor if you do not have a copy)
• write the result in your Child Health Record Book (sometimes
called the red book)
• ask your GP or health visitor to write the result in your child’s
medical health record
• if you do not already know whether you are a carrier, arrange
a blood test for yourself and your baby’s father (this is
especially important if you plan to have another baby)
• talk to other family members and explain why it is useful for
them to know if they are carriers before starting a family.
What does it mean to be
a sickle cell carrier?
We all have two copies of each gene in
our bodies. We inherit one copy of each
gene from our mother and one from our
father. Genes are the information that
our bodies use to shape the way we
grow and function.
Some of these genes control
haemoglobin – the substance in our
blood that carries oxygen around our
body. We write the usual haemoglobin
as Hb AA. (Hb is the short way of
writing haemoglobin).
People who have sickle cell disease
have inherited two unusual genes for
sickle cell – one from their mother
and one from their father. We write
their haemoglobin in different ways
depending on which genes they have
inherited – for example Hb SS for sickle
cell anaemia.
People who are carriers – like your baby
– have inherited one gene that makes
usual haemoglobin A and one gene
that makes sickle haemoglobin S. So,
we write their haemoglobin as Hb AS.
Because your baby makes some usual
haemoglobin, they will never have sickle
cell disease. They will always be a
healthy carrier.
But, if they have a baby with someone
else who also has an unusual gene,
there is a chance that their child could
inherit sickle cell disease.
2
“In future it's something to sit
down and just go through…
Just in case there's a health risk
to future grandchildren. I'm
glad, you know, I'm happy that
we know now.”
The father of a baby identified
as a carrier
How will being a carrier
affect my child?
Your child’s health
Your child is healthy and does not need
any treatment.
However, people who carry sickle cell can
experience problems in rare situations
where their bodies might not get enough
oxygen. The most important example is
having a general anaesthetic. You should
make sure that health professionals
know that your child is a sickle cell
carrier before they have an operation.
You should check that a trained
anaesthetist is looking after your child
and avoid any operations where this is
not offered – for example, some dental
surgery.
Your child should also take extra care
in situations where there might be a
lack of oxygen such as deep-sea diving
or high-altitude mountaineering. Apart
from these very rare situations, your
child can live completely normally.
Planning a family in the future
It is important that you tell your child
about being a carrier. This will be
valuable information when they grow
up and want to start a family. Your child
3
will be able to explain about being a
carrier and suggest a blood test for their
partner. If the partner is also a carrier,
there is a chance that their baby could
inherit sickle cell disease. The diagram
on page 4 shows the different chances
of inheriting sickle cell disease.
How might the carrier
result affect our family?
Your baby’s test result means that:
• you or the baby’s father is a sickle cell
carrier (it could be the father or mother)
• both of you could be carriers
• one of you could have sickle cell
disease, or
• one of you could be a carrier and the
other have sickle cell disease.
If you do not already know whether
you are a carrier and you are planning
to have another baby, we strongly
recommend that both you and the
baby’s father have a blood test to find
out if you are carriers. This is because
there is a chance that your next baby
could inherit sickle cell disease. The
diagram on page 4 shows the different
chances of passing on the disease.
Your baby’s test result also means that:
How do babies inherit
sickle cell disease?
• other children in the family might be
sickle cell carriers (or have sickle cell
disease)
Babies can only inherit sickle cell disease
if both parents pass on an unusual gene.
• other people in the wider family
might be carriers (or have sickle cell
disease).
When a mother and a father both
carry an unusual gene for sickle cell,
every time they have a baby there is:
We recommend that you talk about
your baby’s screening result with other
members of your family, and encourage
them to think about having a blood
test to see if they are carriers.
As we have already explained, this is
important if they are planning to have
a family, and for health reasons –
especially if they need to have a general
anaesthetic.
• a 25% (one in four) chance that
their baby will not be a carrier or
have sickle cell disease
• a 50% (two in four) chance that
their baby will be a carrier
• a 25% (one in four) chance that their
baby will have sickle cell disease.
If you want to arrange blood tests,
please talk to your family doctor (GP)
or local haemoglobinopathy sevice. (See
the back page of this leaflet for details.)
The diagram below shows the chances (for each pregnancy) of two carrier parents having
a child with sickle cell disease.
Carrier mother
Normal
gene
Carrier father
Disease
gene
Normal
gene
Disease
genes only
Disease gene
and normal gene
Disease gene
and normal gene
Normal
genes only
Child has a
disease
Child is
a carrier
Child is
a carrier
Child is not
affected
(1 in 4 chance)
(2 in 4 chance)
(1 in 4 chance)
4
“[The fact that our baby is
a carrier] is just something
that will just sort of sit in the
background, up until either we
decide to extend the family or
we're waiting for grandchildren.
And I think that's the only times
that it will come up.”
The mother of a baby identified
as a carrier
Other questions that
parents of carriers
often ask
Can my baby develop sickle
cell disease?
No – your baby will never have sickle cell
disease. But they will always be a carrier.
Is being a carrier infectious?
No – you cannot catch sickle cell disease.
You can only be a carrier if you inherit
the gene from one of your parents.
Why is it important to tell my child
about being a carrier?
It is important information for the
future. Your child needs to know about
being a carrier if they are planning to
start a family because, as we have
already explained above, their child
could inherit sickle cell disease. Also,
your child should take care when having
a general anaesthetic.
Try to introduce the subject in a calm
way and use opportunities that come up
naturally – for example learning about
blood at school. Do reassure your child
that they are healthy and do not need
any treatment.
5
Does being a carrier protect my child
from malaria?
Carrying an unusual gene for sickle cell
helps to protect people against malaria
in childhood. This explains why the gene
became common and why you are more
likely to carry the sickle cell gene if your
ancestors came from places where
malaria has been widespread. These
places include the countries around the
Mediterranean (for example Cyprus,
Turkey, Italy, Greece), Africa, the
Caribbean, the Middle East, parts of
India, Pakistan, South America or south
and south-east Asia. But anyone can
carry an unusual gene for sickle cell,
and people who are carriers should
still take precautions and medicines
against malaria when they are travelling
in countries where malaria is common.
Facts about sickle Questions?
If you have questions about any
cell disease
of the information in this leaflet,
Sickle cell disease is the name we give
to a group of related conditions. These
conditions affect haemoglobin – the
substance in our blood that carries oxygen
around our body.
Some sickle cell conditions are more serious
than others. We call the most serious
form sickle cell anaemia and write it as Hb
SS. Other conditions that need treatment
include Hb SC and Hb S beta thalassaemia.
People with sickle cell disease:
• can have attacks of severe pain
• can get serious, life-threatening
infections
• are usually anaemic. (Their bodies can
have less iron than usual because their
red blood cells break down more quickly
than normal red blood cells. This may
cause difficulties in carrying oxygen)
• will need treatment and care
throughout their lives.
• Sickle cell disease is the most common
genetic disease in England
• There are at least 240,000 healthy sickle
cell carriers in England
• Around 12,500 people live with sickle
cell disease in England.
please talk to your health visitor,
GP or local haemoglobinopathy
service. They may also know about
other organisations which can give
you information. We have listed
some of these on the next page.
More information
The NHS Sickle Cell and Thalassaemia
Screening Programme is developing
more detailed information about
carrying an unusual gene for sickle
cell, sickle cell disease and the chances
of babies inheriting sickle cell.
Visit www.sickleandthal.org.uk.
Read more real-life experiences of
sickle cell and thalassaemia screening
like the ones shown in this leaflet.
Visit www.dipex.org/
sicklecellandthalassaemia.
Find out more detailed information
about being a sickle cell carrier and
sickle cell disease at
www.chime.ucl.ac.uk/APoGI
(click on ‘APoGI’ for haemoglobin
gene variants).
We are providing this for information
only. Your baby does not have sickle
cell disease.
6
Your local haemoglobinopathy service is based at:
Other organisations
Sickle Cell Society
54 Station Road,
London NW10 4UA
Phone: 020 8961 7795
Helpline: 0800 001 5660
Email: [email protected]
Website: www.sicklecellsociety.org
Sickle and Thalassaemia
Association of Counsellors (STAC)
South West London Sickle Cell
and Thalassaemia Centre,
Balham Health Centre,
120 Bedford Hill, Balham,
London SW12 9HP
Phone: 020 8700 0615
Email: [email protected]
Website: www.stacuk.org
We aim to treat all records relating to screening for sickle cell, thalassaemia and other
haemoglobin disorders in line with the Data Protection Act 1998.
This leaflet was produced by the NHS Sickle Cell and Thalassaemia Screening Programme
in September 2007. We will provide versions of this leaflet in other languages and on
audio tape, in large print and in Braille during 2007-2008. For more details, please see the
programme website at www.sickleandthal.org.uk
Cover Photo: Marcus Lyon
© NHS Sickle Cell and Thalassaemia Screening Programme 2007